DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2-DMR0 as a DNA methylation-dependent, P0 promoter-specific enhancer.

doi:10.1096/fj.201901757R

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Article

DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2-DMR0 as a DNA methylation-dependent, P0 promoter-specific enhancer.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Jan 2020

Watanabe Hidetaka, Higashimoto Ken, Miyake Noriko, Morita Sumiyo, Horii Takuro, Kimura Mika, Suzuki Takayuki, Maeda Toshiyuki, Hidaka Hidenori, Aoki Saori, Yatsuki Hitomi, Okamoto Nobuhiko, Uemura Tetsuji, Hatada Izuho, Matsumoto Naomichi, Soejima Hidenobu

Abstract excerpt

Haploinsufficiency of NSD1, which dimethylates histone H3 lysine 36 (H3K36), causes Sotos syndrome (SoS), an overgrowth syndrome. DNMT3A and DNMT3B recognizes H3K36 trimethylation (H3K36me3) through PWWP domain to exert de novo DNA methyltransferase activity and establish imprinted differentially methylated regions (DMRs). Since decrease of H3K36me3 and genome-wide DNA hypomethylation in SoS were observed,...

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PMID: 31914674
DOI: 10.1096/fj.201901757R
PMCID: PMC6973060

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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